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2q37 deletion syndrome
Other Names for this Disease
- Albright hereditary osteodystrophy-like syndrome
- Brachydactyly-Mental Retardation syndrome
- Chromosome 2q37 deletion syndrome
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hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. Most cases are not inherited.2q37 deletion syndrome is a rare chromosome condition that can affect many parts of the body. Approximately 100 cases have been reported worldwide. This condition is characterized by weak muscle tone (
Last updated: 7/7/2011
- 2q37 deletion syndrome. Genetics Home Reference. April 2009; http://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome. Accessed 7/7/2011.
- Genetics Home Reference (GHR) contains information on 2q37 deletion syndrome. This website is maintained by the National Library of Medicine.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss 2q37 deletion syndrome. Click on the link to view a sample search on this topic.